Chondrosarcoma is one of the most common forms of bone cancer, characterized by the malignant transformation of cartilage cells.
Although it is the second most frequent bone tumor, it remains a relatively rare condition, with an incidence of less than one case per 100,000 people.
In this article, we explore in detail the characteristics, symptoms, and treatment options available for this complex pathology.
What is chondrosarcoma?
Chondrosarcoma, as we mentioned in the article’s introduction, is a malignant tumor that develops from cartilage cells, a connective tissue essential for bone support and growth.
Cartilage, normally present in joints, spine, pelvis, and other parts of the body, is composed of cells called chondrocytes, which are immersed in a gelatinous matrix.
When these cells undergo malignant transformation, they can give rise to chondrosarcoma.
Who does it affect and risk factors
This condition primarily affects adults between 20 and 60 years of age, with a slight predominance in males.
While most cases occur sporadically, some genetic conditions can increase the risk of developing this disease, specifically:
- Ollier disease
- Maffucci syndrome
- Multiple hereditary exostoses
- Wilms tumor
- Recent genetic studies have identified specific mutations in IDH1 and IDH2 genes, which might play a key role in the disease’s development.
- Abnormalities have also been found in other genes such as TP53, RAS, EXT1, EXT2, and Sox9.
Chondrosarcoma in children
While we have said it’s primarily an adult condition, chondrosarcoma presents with peculiar characteristics in pediatric patients under 15 years.
The most common form in this age group is mesenchymal chondrosarcoma, which tends to be more aggressive than the variants affecting adults.
Early diagnosis is particularly challenging in children, as symptoms can be confused with growth problems or sports injuries.
Treatment requires a specialized multidisciplinary approach in pediatric oncology, particularly preserving functionality and growth.
What symptoms should I look for?
To help your child (or unfortunately recognize it in yourself or someone you know), the symptoms of chondrosarcoma typically include:
- Localized pain: this is the most frequent symptom and tends to worsen over time. The pain is often more intense at night or during physical activity and doesn’t improve with rest
- Swelling or tumefaction: a visible protrusion or nodule around the affected bone may appear. This swelling is often associated with pain and can be palpable
- Stiffness and sensitivity: stiffness in the affected area and a sensation of pressure or tenderness around the tumor may be felt
- Fractures: due to the fragility of the affected bone, fractures can occur even after minor trauma. Often, chondrosarcoma is diagnosed during radiological exams performed for fractures
- Urinary problems: if the tumor develops in the pelvis, urination difficulties may arise
Types and location
Chondrosarcoma can manifest as a primary form, developing in healthy bone, or as a secondary form, evolving from a pre-existing benign tumor.
The most frequently affected sites include:
- The pelvic girdle
- The shoulder girdle
- The ribs
- More rarely, the spine and skull
The classification of chondrosarcoma includes several subtypes, with conventional chondrosarcoma representing about 90% of cases. Other subtypes include dedifferentiated (10%), mesenchymal, and clear cell, the latter being rarer but generally more aggressive.
How is it diagnosed?
As we previously mentioned, the main symptoms of chondrosarcoma include:
- Bone swellings or protrusions
- Persistent pain, often present at night
- Difficulty in joint movements
- Increased risk of fractures
Therefore, diagnosis is based on a multimodal approach that includes:
- Thorough clinical examination
- Imaging diagnostics (X-ray, CT, MRI, scintigraphy, PET)
- Biopsy for definitive confirmation
Can it be treated?
Modern techniques often allow preservation of the affected limb, using biocompatible prostheses or bone grafts.
Amputation is considered only in more advanced cases or when the tumor has involved critical nerve and vascular structures.
Chemotherapy and radiotherapy have a limited role in treating conventional chondrosarcoma but may be more effective in some subtypes such as dedifferentiated and mesenchymal.
Research is opening new therapeutic perspectives, focusing on:
- New targeted chemotherapy agents
- Therapies directed against products of mutated IDH1 and IDH2 genes
- Innovative immunotherapy approaches
- Strategies based on tumor cell vulnerability to NAD+ enzyme loss
We are with you.
Optimal management of chondrosarcoma requires the involvement of specialized centers that can offer all available therapeutic options, ensuring the patient the best possibilities for treatment and quality of life.
We at Parentalife support you throughout your parenting journey with our guides, our courses, and with personalized consultations.
We are with you.
SOURCES
Gazendam A, Popovic S, Parasu N, Ghert M. Chondrosarcoma: A Clinical Review. J Clin Med. 2023 Mar 26;12(7):2506. doi: 10.3390/jcm12072506. PMID: 37048590; PMCID: PMC10095313.